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Allele : Arhgap6<tm1Hzo> Rho GTPase activating protein 6; targeted mutation 1, Huda Y Zoghbi

Primary Identifier  MGI:2447302 Allele Type  Targeted
Attribute String  Null/knockout Gene  Arhgap6
Transmission  Germline Strain of Origin  129S7/SvEvBrd-Hprt1<b-m2>
Is Recombinase  false Is Wild Type  false
molecularNote  Exons 6, 7, and 8 were replaced with a cassette containing a neomycin resistance gene, a single loxP site, and a 5' portion of an hprt minigene. Sequence analysis of RT-PCR products verified the deletion of the targeted exons and the splicing of exon 5 to exon 9, resulting in frameshift and consequent nonsense mutation. The transcript encodes a truncated protein containing 2 putative SH3-binding domains. The single loxP site was inserted for use as a centromeric anchor point for a larger deletion extending from the rhoGAP domain of Arhgap6 through a 5' untranslated exon of Mid1, recapitulating a deletion associated with human MLS.
  • mutations:
  • Intragenic deletion,
  • Insertion
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

5 Publication categories

Trail: Allele